P7L (p.Pro7Leu) variant of AGRN (Agrin)
P7L (p.Pro7Leu) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- rs1389840850
- gnomAD 1-1020192-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.19
- MetaLR 0.25
- MetaSVM -0.97
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available